Sulfite Oxidase Deficiency

Sulfite oxidase deficiency (molybdenum cofactor deficiency) is a very rare hereditary disorder of sulfur metabolism manifested by severe neurologic disorders and ectopia lentis. The enzyme deficiency interferes with conversion of sulfite to sulfate, resulting in increased excretion of sulfite in the urine. The diagnosis can be confirmed by the absence of sulfite oxidase activity in skin fibroblasts. Neurologic abnormalities include infantile hemiplegia, choreoathetosis, and seizures. Irreversible brain damage and death usually occur by 5 years of age.

Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.